{"id":"W4200280849","doi":"10.1161/circgen.121.003589","title":"Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome","year":2021,"lang":"en","type":"article","venue":"Circulation Genomic and Precision Medicine","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Libin Cardiovascular Institute of Alberta","funders":"Canadian Institutes of Health Research; National Institute for Health and Care Research; British Heart Foundation; Wellcome Trust","keywords":"Provocation test; Flecainide; Sudden death; Sudden infant death syndrome; Channelopathy; Phenotype; Mutation; Calcium; Long QT syndrome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007962266,0.0001507424,0.0003637146,0.0002064124,0.0001268984,0.00001072473,0.00002795437,0.0001218839,0.00003571863],"category_scores_gemma":[0.001373217,0.0001286993,0.00003057186,0.0004344452,0.0001199666,0.00005457464,0.00003439547,0.0002134844,0.000006924855],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008479624,"about_ca_system_score_gemma":0.0002234595,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002378982,"about_ca_topic_score_gemma":0.000001833632,"domain_scores_codex":[0.9985667,0.0002662024,0.0003730833,0.0004173105,0.000165491,0.0002111609],"domain_scores_gemma":[0.998859,0.0005397525,0.00009568552,0.0002250214,0.0001498102,0.0001307229],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002252814,0.00007674327,0.04109221,0.0001361942,0.00002931972,0.0007682948,0.002397419,0.0006989135,0.8352191,0.0001752933,0.00003285424,0.1171208],"study_design_scores_gemma":[0.002335679,0.00046825,0.9819462,0.0003063164,0.00008425325,0.003469751,0.0003058396,0.008626222,0.0004481658,0.001793789,0.00008021263,0.0001353003],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865911,0.008377942,0.002033181,0.002270705,0.0001235569,0.0004196813,0.000001613261,0.00003274346,0.0001494513],"genre_scores_gemma":[0.9983417,0.0001950815,0.0004886678,0.0006416831,0.0001153002,0.00002173265,0.00002538168,0.00001724233,0.0001531922],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.940854,"threshold_uncertainty_score":0.5248204,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03934275082803448,"score_gpt":0.2837051413861519,"score_spread":0.2443623905581175,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}